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rs80358928

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358928(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32354877
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358928
ebirs80358928
HLIrs80358928
Exacrs80358928
Varsomers80358928
Maprs80358928
PheGenIrs80358928
hapmaprs80358928
1000 genomesrs80358928
hgdprs80358928
ensemblrs80358928
gopubmedrs80358928
geneviewrs80358928
scholarrs80358928
googlers80358928
pharmgkbrs80358928
gwascentralrs80358928
openSNPrs80358928
23andMers80358928
23andMe allrs80358928
SNP Nexus

SNPshotrs80358928
SNPdbers80358928
MSV3drs80358928
GWAS Ctlgrs80358928
Max Magnitude6
rs80358928, also known as Q2342X, c.7024C>T and p.Gln2342Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358928(T;T)
Alt rs80358928(T;T)
Reference rs80358928(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32929014C>T
CLNSRC ClinVar
CLNACC RCV000045122.3, RCV000077396.3, RCV000215667.1,